Am J Hum Genet. 1999 Nov;65(5):1428-36. doi: 10.1086/302613.
Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the first systematic genome scan, using 76 affected-sib-pair families with a total of 110 sib pairs, are summarized. While no results reached acceptable statistical significance, the multipoint maximum-likelihood scores (MLS) for two regions (4q and 8p) were suggestive (MLS > 2.0). Four additional genomic regions also gave multipoint MLS scores between 1.0 and 2.0.
抽动秽语综合征是一种神经精神障碍,其特征为多发性运动和发声抽动症状时轻时重,遗传方式复杂。以往利用大型多代家庭来定位易感基因座的尝试均未成功。在本报告中,总结了首次系统性基因组扫描的结果,该扫描使用了76个患病同胞对家庭,共计110对同胞。虽然没有结果达到可接受的统计学显著性,但两个区域(4q和8p)的多点最大似然分数(MLS)具有提示性(MLS>2.0)。另外四个基因组区域的多点MLS分数也在1.0至2.0之间。